Germ-Line Mutation

• 

  Subject Areas on Research

  • A Chinese family affected by lynch syndrome caused by MLH1 mutation. 
  • A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer. 
  • A germ-line deletion of APOBEC3B does not contribute to subtype-specific childhood acute lymphoblastic leukemia etiology. 
  • A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. 
  • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. 
  • Abnormal gene expression profiles in unaffected parents of patients with hereditary-type retinoblastoma. 
  • Absence of PTEN germ-line mutations in men with a potential inherited predisposition to prostate cancer. 
  • Accumulation of p53 protein is frequent in ovarian cancers associated with BRCA1 and BRCA2 germline mutations. 
  • Activating mutation in MET oncogene in familial colorectal cancer. 
  • Adiposity-related protection of intestinal tumorigenesis: interaction with dietary calcium. 
  • Advances in inherited cancers: Introduction. 
  • An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. 
  • Antibodies VRC01 and 10E8 neutralize HIV-1 with high breadth and potency even with Ig-framework regions substantially reverted to germline. 
  • Assessing matched normal and tumor pairs in next-generation sequencing studies. 
  • Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. 
  • Association between p53 Arg72Pro polymorphism and colorectal cancer risk: a meta-analysis. 
  • Authors' Reply. 
  • BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. 
  • BRCA1 immunohistochemistry in a molecularly characterized cohort of ovarian high-grade serous carcinomas. 
  • BRCA1 mutations in primary breast and ovarian carcinomas. 
  • Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 
  • Brain Metastases in Pancreatic Ductal Adenocarcinoma: Assessment of Molecular Genotype-Phenotype Features-An Entity With an Increasing Incidence? 
  • Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 
  • Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications. 
  • Broadening the View of Germline Mutations in Kidney Cancer. 
  • C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain. 
  • CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. 
  • Carcinogenicity of a nephrotoxic metabolite of the "nongenotoxic" carcinogen hydroquinone. 
  • Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma. 
  • Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. 
  • Clinical outcome of isolated serous tubal intraepithelial carcinomas (STIC). 
  • Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens. 
  • Deficiency of Mucosal-Associated Invariant T Cells in TCRJα18 Germline Knockout Mice. 
  • Detailed computational study of p53 and p16: using evolutionary sequence analysis and disease-associated mutations to predict the functional consequences of allelic variants. 
  • Detecting Germline PTEN Mutations Among At-Risk Patients With Cancer: An Age- and Sex-Specific Cost-Effectiveness Analysis. 
  • Detecting colorectal cancer in stool with the use of multiple genetic targets. 
  • Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. 
  • Does a BRCA mutation plus tamoxifen equal hysterectomy? 
  • Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. 
  • Evidence for the efficacy of Iniparib, a PARP-1 inhibitor, in BRCA2-associated pancreatic cancer. 
  • Frequency of germline and somatic BRCA1 mutations in ovarian cancer. 
  • Generation and analysis of partially haploid cells with Cre-mediated chromosome deletion in the lymphoid system. 
  • Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique. 
  • Genetic factors influencing prostate cancer risk in Norwegian men. 
  • Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. 
  • Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 
  • Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. 
  • Genomic characterization of HER2-positive breast cancer and response to neoadjuvant trastuzumab and chemotherapy-results from the ACOSOG Z1041 (Alliance) trial. 
  • Germ-line mutations of the macrophage scavenger receptor 1 gene: association with prostate cancer risk in African-American men. 
  • Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 
  • Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. 
  • Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium. 
  • Germline Genetic Testing: What the Breast Surgeon Needs to Know. 
  • Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. 
  • Germline and somatic thyroid hormone receptor mutations in man. 
  • Germline genetic landscape of pediatric central nervous system tumors. 
  • Germline genetic variants in men with prostate cancer and one or more additional cancers. 
  • Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study. 
  • Germline mutations in HOXB13 and prostate-cancer risk. 
  • Germline mutations in PPFIBP2 are associated with lethal prostate cancer. 
  • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 
  • Germline mutations in shelterin complex genes are associated with familial glioma. 
  • Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer. 
  • Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. 
  • Germline signaling mediates the synergistically prolonged longevity produced by double mutations in daf-2 and rsks-1 in C. elegans. 
  • Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. 
  • Glioma Groups Based on 1p/19q, IDH, and TERT Promoter Mutations in Tumors. 
  • HOXB13 G84E-related familial prostate cancers: a clinical, histologic, and molecular survey. 
  • HOXB13 interaction with MEIS1 modifies proliferation and gene expression in prostate cancer. 
  • HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). 
  • Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. 
  • Hereditary nonpolyposis colorectal cancer: preventive management. 
  • Heritable resistance to tyrosine kinase inhibitors. 
  • Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Immunoglobulin somatic hypermutation has clinical impact in DLBCL and potential implications for immune checkpoint blockade and neoantigen-based immunotherapies. 
  • In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline. 
  • Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. 
  • Increased in vitro and in vivo sensitivity of BRCA2-associated pancreatic cancer to the poly(ADP-ribose) polymerase-1/2 inhibitor BMN 673. 
  • Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes. 
  • Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study. 
  • Invasion Patterns of Metastatic Extrauterine High-grade Serous Carcinoma With BRCA Germline Mutation and Correlation With Clinical Outcomes. 
  • Is It time to stratify for BRCA mutation status in therapeutic trials in ovarian cancer? 
  • Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder. 
  • Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. 
  • Malignant Mesothelioma and Its Non-Asbestos Causes. 
  • Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. 
  • Molecular Analysis of a Patient With Neurofibromatosis 2 (NF2) and Peritoneal Malignant Mesothelioma. 
  • Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. 
  • Mortality reduction and cost-effectiveness of performing hysterectomy at the time of risk-reducing salpingo-oophorectomy for prophylaxis against serous/serous-like uterine cancers in BRCA1 mutation carriers. 
  • Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. 
  • Mutational hotspots in the mitochondrial genome of lung cancer. 
  • Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. 
  • Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 
  • Origins and prevalence of the American Founder Mutation of MSH2. 
  • Outcome of Pancreatic Cancer Surveillance Among High-Risk Individuals Tested for Germline Mutations in BRCA1 and BRCA2. 
  • Outcomes of primary surgical cytoreduction in patients with BRCA-associated high-grade serous ovarian carcinoma. 
  • PTEN polymorphism (IVS4) is not associated with risk of prostate cancer. 
  • Pan-cancer analysis of whole genomes. 
  • Patched-one or smoothened gene mutations are infrequent in chondrosarcoma. 
  • Pathogenic Germline Variants in 10,389 Adult Cancers. 
  • Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ. 
  • Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. 
  • Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children. 
  • Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. 
  • Prevalence of deleterious ATM germline mutations in gastric cancer patients. 
  • Prophylactic and risk-reducing bilateral salpingo-oophorectomy: recommendations based on risk of ovarian cancer. 
  • Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. 
  • Rare de novo germline copy-number variation in testicular cancer. 
  • Rare germline mutations in African American men diagnosed with early-onset prostate cancer. 
  • Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. 
  • Risk-reducing salpingo-oophorectomy in patients with germline mutations in BRCA1 or BRCA2. 
  • Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. 
  • STAT3-enhancing germline mutations contribute to tumor-extrinsic immune evasion. 
  • Screening for familial and hereditary prostate cancer. 
  • Single nucleotide variation in the TP53 3' untranslated region in diffuse large B-cell lymphoma treated with rituximab-CHOP: a report from the International DLBCL Rituximab-CHOP Consortium Program. 
  • Single-port risk-reducing salpingo-oophorectomy with and without hysterectomy: surgical outcomes and learning curve analysis. 
  • Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. 
  • Surgical risk-reduction in carriers of BRCA mutations: where do we go from here? 
  • Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation. 
  • Survival Benefit of Germline BRCA Mutation is Associated with Residual Disease in Ovarian Cancer. 
  • Synaptic, transcriptional and chromatin genes disrupted in autism. 
  • TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children. 
  • TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome. 
  • Tamoxifen and the risk of ovarian cancer in BRCA1 mutation carriers. 
  • Targeted composite value-based endpoints in platinum-sensitive recurrent ovarian cancer. 
  • Testing for the recurrent HOXB13 G84E germline mutation in men with clinical indications for prostate biopsy. 
  • The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds. 
  • The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type. 
  • The nucleotide-replacement spectrum under somatic hypermutation exhibits microsequence dependence that is strand-symmetric and distinct from that under germline mutation. 
  • The performance of BRCA1 immunohistochemistry for detecting germline, somatic, and epigenetic BRCA1 loss in high-grade serous ovarian cancer. 
  • The role of hPMS1 and hPMS2 in predisposing to colorectal cancer. 
  • The targeting of somatic hypermutation closely resembles that of meiotic mutation. 
  • Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report. 
  • Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach. 
  • Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers. 
  • Two identical triplet sisters carrying a germline BRCA1 gene mutation acquire very similar breast cancer somatic mutations at multiple other sites throughout the genome. 
  • Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes. 
  • Utility of p16 immunohistochemistry for the identification of Lynch syndrome. 
  • Vandetanib for the treatment of patients with locally advanced or metastatic hereditary medullary thyroid cancer. 
  • Veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in patients with BRCA1/2 locally recurrent/metastatic breast cancer: randomized phase II study. 
  • Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Yan, Hai, Henry S. Friedman Distinguished Professor of Neuro-Oncology in the School of Medicine, Pathology